1. Clinical characterization of familial isolated pituitary adenomas
- Author
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J.-L. Wémeau, Thierry Brue, Guido Tamburrano, Francesco Cavagnini, Vincent Rohmer, Enrica Ciccarelli, Philippe Lecomte, Bruno Estour, Piero Ferolla, Alain Calender, Brigitte Delemer, Achille Stevenaert, F. Archambeaud, F. Penfornis, Antonio Ciccarelli, Hernan Valdes-Socin, W. W. de Herder, A. Colao, Marie Lise Jaffrain-Rea, Philippe Emy, Arnaud Murat, Albert Beckers, Adrian Daly, C. Borson-Chazot, E. De Menis, Jérôme Bertherat, Daly, Af, Jaffrain Rea, Ml, Ciccarelli, A, Valdes Socin, H, Rohmer, V, Tamburrano, G, Borson Chazot, C, Estour, B, Ciccarelli, E, Brue, T, Ferolla, P, Emy, P, Colao, Annamaria, De Menis, E, Lecomte, P, Penfornis, F, Delemer, B, Bertherat, J, Wémeau, Jl, De Herder, W, Archambeaud, F, Stevenaert, A, Calender, A, Murat, A, Cavagnini, F, Beckers, A., and Internal Medicine
- Subjects
Adenoma ,Adult ,Male ,medicine.medical_specialty ,Endocrinology, Diabetes and Metabolism ,Cyclic AMP-Dependent Protein Kinase RIalpha Subunit ,Clinical Biochemistry ,Population ,Context (language use) ,pituitary adenoma ,Pituitary neoplasm ,Biology ,Biochemistry ,Endocrinology ,familial tumours ,familial isolated pituitary adenomas (FIPA) ,adenomi ipofisari ,tumori familiari ,adenomi ipofisari familiari ,Adrenocorticotropic Hormone ,Pituitary adenoma ,Pituitary Hormones, Anterior ,Internal medicine ,medicine ,Humans ,MEN1 ,Pituitary Neoplasms ,Prolactinoma ,education ,Multiple endocrine neoplasia ,Carney complex ,Retrospective Studies ,education.field_of_study ,Biochemistry (medical) ,Sequence Analysis, DNA ,Middle Aged ,medicine.disease ,Cyclic AMP-Dependent Protein Kinases ,Immunohistochemistry ,Pedigree ,Gonadotropins, Pituitary ,Female - Abstract
CONTEXT: Familial pituitary adenomas occur rarely in the absence of multiple endocrine neoplasia type 1 (MEN1) and Carney complex (CNC). OBJECTIVE: Our objective was to characterize the clinical and genealogical features of non-MEN1/CNC familial isolated pituitary adenomas (FIPA). DESIGN AND SETTING: We conducted a retrospective study of clinical and genealogical characteristics of FIPA cases and performed a comparison with a sporadic population at 22 university hospitals in Belgium, Italy, France, and The Netherlands. RESULTS: Sixty-four FIPA families including 138 affected individuals were identified [55 prolactinomas, 47 somatotropinomas, 28 nonsecreting adenomas (NS), and eight ACTH-secreting tumors]. Cases were MEN1/PRKAR1A-mutation negative. First-degree relationships predominated (75.6%) among affected individuals. A single tumor phenotype occurred in 30 families (homogeneous), and heterogeneous phenotypes occurred in 34 families. FIPA cases were younger at diagnosis than sporadic cases (P = 0.015); tumors were diagnosed earlier in the first vs. the second generation of multigenerational families. Macroadenomas were more frequent in heterogeneous vs. homogeneous FIPA families (P = 0.036). Prolactinomas from heterogeneous families were larger and had more frequent suprasellar extension (P = 0.004) than sporadic cases. Somatotropinomas occurred as isolated familial somatotropinoma cases and within heterogeneous FIPA families; isolated familial somatotropinoma cases represented 18% of FIPA cases and were younger at diagnosis than patients with sporadic somatotropinomas. Familial NS cases were younger at diagnosis (P = 0.03) and had more frequently invasive tumors (P = 0.024) than sporadic cases. CONCLUSIONS: Homogeneous and heterogeneous expression of prolactinomas, somatotropinomas, NS, and Cushing's disease can occur within families in the absence of MEN1/CNC. FIPA and sporadic cases have differing clinical characteristics. FIPA may represent a novel endocrine neoplasia classification that requires further genetic characterization
- Published
- 2006